Autopsy and Case Reports
Autopsy and Case Reports
Article / Clinical Case Report

High-grade B-Cell lymphoma with MYC and BCL6 rearrangements associated with Richter transformation of chronic lymphocytic leukemia

Thomas S Rogers; Juli-Anne Gardner; Katherine A Devitt

Downloads: 0
Views: 762


Richter transformation (RT), or Richter syndrome, is defined as the transformation of chronic lymphocytic leukemia (CLL) to an aggressive B-cell lymphoma. The vast majority, up to 99%, transform into diffuse large B-cell lymphoma (DLBCL), with a small subset (<1%) becoming classical Hodgkin lymphoma. Approximately half of RT cases progress through a pathway involving dysregulation of C-MYC. High-grade B-cell lymphoma (HGBL) is a recent diagnostic category of aggressive B-cell lymphomas set forth in the updated 2017 WHO Classification of Hematopoietic and Lymphoid Tissues. HGBL with MYC and BCL2 and/or BCL6 rearrangements, formerly “double-hit” and “triple-hit” lymphomas, comprise the majority of HGBL cases. Patients with HGBL have a worse prognosis than those with diffuse large B-cell lymphoma. We present a case of RT with rearrangements of MYC and BCL6. To our knowledge, there are no reported cases of RT with a “double-hit” lymphoma genotype.


Leukemia, Lymphocytic, Chronic, B-cell, Lymphoma, Non-Hodgkin, Lymphoma, Large B-cell, Diffuse, Cytogenetics


Swerdlow SH, Campo E, Harris NL, et al. WHO classification of tumours of haematopoietic and lymphoid tissues. 4th ed. Lyon: International Agency for Research on Cancer; 2017.

Copie-Bergman C. Double-hit DLBCL: should we limit FISH testing? Blood. 2018;131(18):1997-8. []. [PMID:29724715]

Aukema SM, Siebert R, Schuuring E, et al. Double-hit B-cell lymphomas. Blood. 2011;117(8):2319-31. []. [PMID:21119107]

Ye Q, Xu-Monette ZY, Tzankov A, et al. Prognostic impact of concurrent MYC and BCL6 rearrangements and expression in de novo diffuse large B-cell lymphoma. Oncotarget. 2016;7(3):2401-16. []. [PMID:26573234]

Pillai RK, Sathanoori M, Van Oss SB, Swerdlow SH. Double-hit B-cell lymphomas with BCL6 and MYC translocations are aggressive, frequently extranodal lymphomas distinct from BCL2 double-hit B-cell lymphomas. Am J Surg Pathol. 2013;37(3):323-32. []. [PMID:23348205]

Robertson LE, Pugh W, O’Brien S, et al. Richter’s syndrome: a report on 39 patients. J Clin Oncol. 1993;11(10):1985-9. []. [PMID:8410123]

Rossi D, Cerri M, Capello D, et al. Biological and clinical risk factors of chronic lymphocytic leukaemia transformation to Richter syndrome. Br J Haematol. 2008;142(2):202-15. []. [PMID:18492108]

Mao Z, Quintanilla-Martinez L, Raffeld M, et al. IgVH mutational status and clonality analysis of Richter’s transformation: diffuse large B-cell lymphoma and Hodgkin lymphoma in association with B-cell chronic lymphocytic leukemia (B-CLL) represent 2 different pathways of disease evolution. Am J Surg Pathol. 2007;31(10):1605-14. []. [PMID:17895764]

Rossi D, Spina V, Gaidano G. Biology and treatment of Richter syndrome. Blood. 2018;131(25):2761-72. []. [PMID:29692342]

Fabbri G, Khiabanian H, Holmes AB, et al. Genetic lesions associated with chronic lymphocytic leukemia transformation to Richter syndrome. J Exp Med. 2013;210(11):2273-88. []. [PMID:24127483]

Tsimberidou AM, Keating MJ. Richter syndrome: biology, incidence, and therapeutic strategies. Cancer. 2005;103(2):216-28. []. [PMID:15578683]

Liu H, Yan Q, Nuako-Bandoh B, et al. Richter transformation: clonal identity does not indicate a linear disease progression. Br J Haematol. 2012;157(1):136-9. []. [PMID:22050709]

Barrans S, Crouch S, Smith A, et al. Rearrangement of MYC is associated with poor prognosis in patients with diffuse large B-cell lymphoma treated in the era of rituximab. J Clin Oncol. 2010;28(20):3360-5. []. [PMID:20498406]

Horn H, Ziepert M, Becher C, et al. MYC status in concert with BCL2 and BCL6 expression predicts outcome in diffuse large B-cell lymphoma. Blood. 2013;121(12):2253-63. []. [PMID:23335369]

Tsimberidou AM, O’Brien S, Khouri I, et al. Clinical outcomes and prognostic factors in patients with Richter’s syndrome treated with chemotherapy or chemoimmunotherapy with or without stem-cell transplantation. J Clin Oncol. 2006;24(15):2343-51. []. [PMID:16710033]

Clipson A, Barrans S, Zeng N, et al. The prognosis of MYC translocation positive diffuse large B-cell lymphoma depends on the second hit. J Pathol Clin Res. 2015;1(3):125-33. []. [PMID:27347428]

Tzankov A, Xu-Monette ZY, Gerhard M, et al. Rearrangements of MYC gene facilitate risk stratification in diffuse large B-cell lymphoma patients treated with rituximab-CHOP. Mod Pathol. 2014;27(7):958-71. []. [PMID:24336156]

Scott DW, Mottok A, Ennishi D, et al. Prognostic significance of diffuse large B-cell lymphoma cell of origin determined by digital gene expression in formalin-fixed paraffin-embedded tissue biopsies. J Clin Oncol. 2015;33(26):2848-56. []. [PMID:26240231]




Publication date:

5d31ff640e8825117ce91f55 autopsy Articles
Links & Downloads

Autops Case Rep

Share this page
Page Sections